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Page 1
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
Vill K, Tacke M, König A, Baumann M, Baumgartner M, Steinbach M, Bernert G, Blaschek A, Deschauer M, Flotats-Bastardas M, Friese J, Goldbach S, Gross M, Günther R, Hahn A, Hagenacker T, Hauser E, Horber V, Illsinger S, Johannsen J, Kamm C, Koch JC, Koelbel H, Koehler C, Kolzter K, Lochmüller H, Ludolph A, Mensch A, Meyer Zu Hoerste G, Mueller M, Mueller-Felber W, Neuwirth C, Petri S, Probst-Schendzielorz K, Pühringer M, Steinbach R, Schara-Schmidt U, Schimmel M, Schrank B, Schwartz O, Schlachter K, Schwerin-Nagel A, Schreiber G, Smitka M, Topakian R, Trollmann R, Tuerk M, Theophil M, Rauscher C, Vorgerd M, Walter MC, Weiler M, Weiss C, Wilichowski E, Wurster CD, Wunderlich G, Zeller D, Ziegler A, Kirschner J, Pechmann A; SMArtCARE study group. Vill K, et al. Among authors: flotats bastardas m. J Neurol. 2024 May;271(5):2787-2797. doi: 10.1007/s00415-024-12188-5. Epub 2024 Feb 27. J Neurol. 2024. PMID: 38409538 Free PMC article.
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
Pechmann A, Baumann M, Bernert G, Flotats-Bastardas M, Gruber-Sedlmayr U, von der Hagen M, Hasselmann O, Hobbiebrunken E, Horber V, Johannsen J, Kellersmann A, Köhler C, von Moers A, Müller-Felber W, Plecko B, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stoltenburg C, Stüve B, Theophil M, Weiß C, Wiegand G, Wilichowski E, Winter B, Wittmann W, Schara U, Kirschner J. Pechmann A, et al. J Neuromuscul Dis. 2020;7(1):41-46. doi: 10.3233/JND-190441. J Neuromuscul Dis. 2020. PMID: 31744015
Rituximab Treatment and Long-term Outcome of Patients With Autoimmune Encephalitis: Real-world Evidence From the GENERATE Registry.
Thaler FS, Zimmermann L, Kammermeier S, Strippel C, Ringelstein M, Kraft A, Sühs KW, Wickel J, Geis C, Markewitz R, Urbanek C, Sommer C, Doppler K, Penner L, Lewerenz J, Rößling R, Finke C, Prüss H, Melzer N, Wandinger KP, Leypoldt F, Kümpfel T; German Network for Research on Autoimmune Encephalitis (GENERATE). Thaler FS, et al. Neurol Neuroimmunol Neuroinflamm. 2021 Oct 1;8(6):e1088. doi: 10.1212/NXI.0000000000001088. Print 2021 Nov. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34599001 Free PMC article.
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM. Weiß C, et al. Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 29. Lancet Child Adolesc Health. 2022. PMID: 34756190
Clinical, serological and genetic predictors of response to immunotherapy in anti-IgLON5 disease.
Grüter T, Möllers FE, Tietz A, Dargvainiene J, Melzer N, Heidbreder A, Strippel C, Kraft A, Höftberger R, Schöberl F, Thaler FS, Wickel J, Chung HY, Seifert F, Tschernatsch M, Nagel M, Lewerenz J, Jarius S, Wildemann BC, de Azevedo L, Heidenreich F, Heusgen R, Hofstadt-van Oy U, Linsa A, Maaß JJ, Menge T, Ringelstein M, Pedrosa DJ, Schill J, Seifert-Held T, Seitz C, Tonner S, Urbanek C, Zittel S, Markewitz R, Korporal-Kuhnke M, Schmitter T, Finke C, Brüggemann N, Bien CI, Kleiter I, Gold R, Wandinger KP, Kuhlenbäumer G, Leypoldt F, Ayzenberg I; German Network for Research on Autoimmune Encephalitis (GENERATE). Grüter T, et al. Brain. 2023 Feb 13;146(2):600-611. doi: 10.1093/brain/awac090. Brain. 2023. PMID: 35259208
47 results